ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Malignant neoplasm of ovary ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801243
rs1801243 		0.851 0.200 13 51974004 missense variant A/C;T snv 0.44; 2.0E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs732774
rs732774 		0.827 0.320 13 51949672 missense variant C/T snv 0.57 0.56
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015